Robustness of inference of haplotype block structure
Robustness of inference of haplotype block structure
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DOI：
10.1089/106652703763255642
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发表时间：
2003-02-01
影响因子：
1.7
通讯作者：
Istrail, S
中科院分区：
文献类型：
--
作者：
Schwartz, R;Halldórsson, BV;Istrail, S
在本报告中，我们通过比较几种主要块检测方法的变体从公共数据集中得出的块分解来检验单倍型块概念的有效性。我们首先开发了一种统计方法来评估两个块分解的一致性。然后，我们评估推断的单倍型块对所选择的特定检测方法的稳健性，对块检测算法中任意选择的稳健性，以及对分析样本的稳健性。尽管块分解显示的一致性水平极不可能是偶然的，但一致性的绝对大小可能低到足以限制推理的效用。从SNP选择的角度来看，在相关SNP之间不任意施加块边界的方法可能比基于块的方法表现得更好。
In this report, we examine the validity of the haplotype block concept by comparing block decompositions derived from public data sets by variants of several leading methods of block detection. We first develop a statistical method for assessing the concordance of two block decompositions. We then assess the robustness of inferred haplotype blocks to the specific detection method chosen, to arbitrary choices made in the block-detection algorithms, and to the sample analyzed. Although the block decompositions show levels of concordance that are very unlikely by chance, the absolute magnitude of the concordance may be low enough to limit the utility of the inference. For purposes of SNP selection, it seems likely that methods that do not arbitrarily impose block boundaries among correlated SNPs might perform better than block-based methods.